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Human Molecular Genetics|October 9, 2001
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.Frontiers in Pediatrics|March 27, 2025
Timing of hydrocortisone therapy in neonates with shock: a systematic review, meta-analysis, and clinical practice guidelineViraraghavan Vadakkencherry Ramaswamy, Gunjana Kumar, Abdul Kareem Pullattayil S, et al.Clinical Genetics|November 22, 2011
Towards an evidence-based process for the clinical interpretation of copy number variationE R Riggs, D M Church, K Hanson, et al.American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.Nature|June 6, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.Pageof 4